A new mutation in the C ‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families
We present a detailed description of seven patients of Turkish origin with the same new mutation in TTC37: c.4572 G>A p.(Trp1524X). All seven patients were homozygous for this mutation and presented the typical clinical features of SD/THE, but with a milder presentation than usual. All seven patients were alive at the last follow‐up. Four out of seven patients had no IUGR, and four patients never required parenteral nutrition. All patients presented a better growth rate than previously described in patients with SD/THE, with 4/7 above the 3rd percentile. The mutation is localized only forty amino acids from the end of...
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Authors: Alexandre Fabre, Laetitia ‐Marie Petit, Lars F. Hansen, Anne V. Wewer, Clothilde Esteve, Charlène Chaix, Patrice Bourgeois, Catherine Badens, Anders Paerregaard Tags: CLINICAL REPORT Source Type: research

Extending the phenotype associated with the CSNK2A1 ‐related Okur–Chung syndrome—A clinical study of 11 individuals
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A, Ahead of Print. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 739-742, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 703-706, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 727-732, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 712-714, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 715-721, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Source Type: research

Perthes disease: A new finding in Floating ‐Harbor syndrome
We describe a case of FHS associated with a novel SRCAP mutation and characterized by Perthes disease, a skeletal anomaly described in approximately 3% of patients with RSTS. Thus Perthes disease can be added to the list of clinical features that overlap between FHS and RSTS. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Authors: Donatella Milani, Giulietta Scuvera, Marta Gatti, Gianluca Tolva, Francesca Bonarrigo, Susanna Esposito, Cristina Gervasini Tags: CLINICAL REPORT Source Type: research

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
This study aims to combine 33 previously published patients with 23 who are described here for the first time to further delineate the phenotype of this syndrome. In addition to the known p.M1? founder, we describe four novel homozygous variants, thus increasing the number of Temtamy syndrome‐related C12orf57 variants to seven, all but one predicted to be loss of function. While all patients presented with intellectual disability/developmental delay, the frequency of other phenotypic features was variable: 73.2% (41/56) had epilepsy, 63% (34/54) had corpus callosal abnormalities, 14.5% (8/55) had coloboma, and 16.4% (9/5...
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Authors: Laila Alrakaf, Mohammed A. Al ‐Owain, Maryam Busehail, Maha A. Alotaibi, Dorota Monies, Hesham M. Aldhalaan, Amal Alhashem, Zuhair N. Al‐Hassnan, Zuhair A. Rahbeeni, Fathiya Al Murshedi, Nadia Al Ani, Almundher Al‐Maawali, Niema A. Ibrahim, Firdous Tags: CLINICAL REPORT Source Type: research

Growth pattern of Rahman syndrome
Recently, in a cohort study with “overgrowth syndrome with intellectual disability,” five subjects were reported to have de novo heterozygous truncating variants in HIST1H1E, which encodes linker histone H 1.4. However, their growth pattern appeared complex that four out of five patients had a decreasing height percentile over time, and three of these patients began with above‐average heights but exhibited reductions to average heights or below when they were older. Herein, we report a female patient with intellectual disability and distinctive facial features including a wide nasal bridge and prominent cheek...
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Authors: Toshiki Takenouchi, Tomoko Uehara, Kenjiro Kosaki, Seiji Mizuno Tags: CLINICAL REPORT Source Type: research

Extending the phenotype associated with the CSNK2A1 ‐related Okur–Chung syndrome—A clinical study of 11 individuals
Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur–Chung neurodevelopmental syndrome. More recently, through trio‐based exome sequencing undertaken by the Deciphering Developmental Disorders Study (DDD study), a further 11 children with de novo CSNK2A1 variants have been identified. We have undertaken detailed phenotyping of these patients. Consistent with previously reported patients, patients in this series had apparent intellectual disability, swallowing...
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Authors: Ceris I. Owen, Ramsay Bowden, Michael J. Parker, Jo Patterson, Joan Patterson, Sue Price, Ajoy Sarkar, Bruce Castle, Charulatha Deshpande, Miranda Splitt, Neeti Ghali, John Dean, Andrew J. Green, Charlene Crosby, , Katrina Tatton ‐Brown Tags: ORIGINAL ARTICLE Source Type: research

Nonsense mutations in FZD2 cause autosomal ‐dominant omodysplasia: Robinow syndrome‐like phenotypes
Omodysplasia‐2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother). Here, we present the second report on a heterozygous novel nonsense FZD2 mutation in OMOD2 or...
Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Authors: Keisuke Nagasaki, Gen Nishimura, Toru Kikuchi, Hiromi Nyuzuki, Sunao Sasaki, Yohei Ogawa, Akihiko Saitoh Tags: CLINICAL REPORT Source Type: research

Response to phenotypic hetergeneity of POMT2 variants
(Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 25, 2018 Category: Genetics & Stem Cells Authors: Andrea Guerin, Gregory Wilson, Sarah Abdullah, Luc Mertens, Grace Yoon, Melissa Carter Tags: EDITORIAL Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 638-648, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 25, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 746-747, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 25, 2018 Category: Genetics & Stem Cells Source Type: research

Clinical and cytogenomic findings in OAV spectrum
The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highly heterogeneous, involving ears, eyes, face, neck, and other systems and organs. There is no agreement in the literature for the minimum phenotypic inclusion criteria, but the primary phenotype involves hemifacial microsomia with facial asymmetry and microtia. Most cases are sporadic and the etiology of this syndrome is not well known. Environmental factors, family cases that demonstrate Mendelian inheritance, such as preauricular app...
Source: American Journal of Medical Genetics Part A - January 25, 2018 Category: Genetics & Stem Cells Authors: Silvia Bragagnolo, Mileny E. S. Colovati, Malu Z. Souza, Anelise G. Dantas, Maria F. Soares, Maria I. Melaragno, Ana B. Perez Tags: ORIGINAL ARTICLE Source Type: research

NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot
In this report, we describe a familial case of TOF associated with a 1.8 Mb deletion of chromosome 10p11. Among the three genes in the region one is Neuropilin1 (NRP1), a membrane co‐receptor of VEGF that modulates vasculogenesis. Hemizygous levels of NRP1 resulted in a reduced expression at the transcriptional and protein levels in patient‐derived cells. Reduction of NRP1 also lead to decreased function of its activity as a co‐receptor in intermolecular VEGF signaling. These findings support that diminished levels of NRP1 contribute to the development of TOF, likely through its function in mediating VEGF sign...
Source: American Journal of Medical Genetics Part A - January 24, 2018 Category: Genetics & Stem Cells Authors: Ivan Duran, Jessica Tenney, Carmen M. Warren, Anna Sarukhanov, Fabiana Csukasi, Mark Skalansky, Maria L. Iruela ‐Arispe, Deborah Krakow Tags: ORIGINAL ARTICLE Source Type: research

Non ‐pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 24, 2018 Category: Genetics & Stem Cells Authors: Petra C. M. Buijs , Anne S. Bassett , Erik Boot Source Type: research

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American Journal of Medical Genetics Part A, Ahead of Print. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 24, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 649-656, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 24, 2018 Category: Genetics & Stem Cells Source Type: research

Non ‐pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review
22q11.2 deletion syndrome (22q11.2DS) is associated with high rates of anxiety disorders, psychotic disorders, and other psychiatric conditions. In the general population, psychiatric disorders are treated with proven pharmacological and non‐pharmacological therapies, such as cognitive behavioral therapy (CBT). To begin to assess the feasibility and efficacy of non‐pharmacological therapies in 22q11.2DS, we performed a systematic search to identify literature on non‐pharmacological interventions for psychiatric disorders in individuals with 22q11.2DS. Of 1,240 individual publications up to mid‐2016 initially identi...
Source: American Journal of Medical Genetics Part A - January 24, 2018 Category: Genetics & Stem Cells Authors: Petra C. M. Buijs, Anne S. Bassett, Erik Boot Tags: RESEARCH REVIEW Source Type: research

Benign and malignant tumors in Rubinstein –Taybi syndrome
Rubinstein–Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5–10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations. The population–based Dutch RSTS data are compared to similar data of the Dutch general population and to an overview of case reports and series of ...
Source: American Journal of Medical Genetics Part A - January 23, 2018 Category: Genetics & Stem Cells Authors: Max V. Boot, Martine J. van Belzen, Lucy I. Overbeek, Nathalie Hijmering, Matias Mendeville, Quinten Waisfisz, Pieter Wesseling, Raoul C. Hennekam, Daphne de Jong Tags: ORIGINAL ARTICLE Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 707-711, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 23, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 597-608, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 23, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 589-596, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 23, 2018 Category: Genetics & Stem Cells Source Type: research

Three patients with Schaaf –Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities
MAGEL2 is the paternally expressed gene within Prader–Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of MAGEL2 were identified. Patients 1 and 2, siblings born to healthy, non‐consanguineous Japanese parents, showed generalized hypotonia, lethargy, severe respiratory difficulty, poor feeding, and multiple anomalies including arthrogryposis soon after birth. We carried out whole‐exome sequencing, which detected a MAGEL2 mutation (c.1912C>T, p.Gln638*, heterozygous). The patients’ father was heterozygous for the mutation. Patient 3 was a female infa...
Source: American Journal of Medical Genetics Part A - January 23, 2018 Category: Genetics & Stem Cells Authors: Takuji Enya, Nobuhiko Okamoto, Yoshinori Iba, Tomoki Miyazawa, Mitsuru Okada, Shinobu Ida, Takuya Naruto, Issei Imoto, Atsushi Fujita, Noriko Miyake, Naomichi Matsumoto, Keisuke Sugimoto, Tsukasa Takemura Tags: CLINICAL REPORT Source Type: research

Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China
Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disease, which develops neurological and cutaneous symptoms because of the impaired biotin recycling. Pathogenic mutations on BTD gene cause BTD deficiency. Clinical features and mutation analysis of Chinese children with BTD deficiency were rarely described. Herein, for the first time, we reported the clinical features, BTD gene mutations and their functional studies of eight symptomatic children with BTD deficiency from southern China. Fatigue, hypotonia, proximal muscular weakness, hearing deficits, rash and respiratory problems are common clinical phe...
Source: American Journal of Medical Genetics Part A - January 23, 2018 Category: Genetics & Stem Cells Authors: Zongcai Liu, Xiaoyuan Zhao, Huiying Sheng, Yanna Cai, Xi Yin, Xiaodan Chen, Ling Su, Zhikun Lu, Chunhua Zeng, Xiuzhen Li, Li Liu Tags: ORIGINAL ARTICLE Source Type: research

Three ‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome
We describe a three‐generation family case series with a heterozygous ∼5.1 Mb novel contiguous gene deletion of chromosome 2p22.3‐p22.2 involving 11 genes, including LTBP1. The deletion has been identified in the proband, father and grandfather, who all have a phenotype consistent with a TAAS. Findings include thoracic aortic dilation, ptosis, malar hypoplasia, high arched palate, retrognathia, pes planus, hindfoot deformity, obstructive sleep apnea, and low truncal tone during childhood with joint laxity that progressed to reduced joint mobility over time. While the three affected individuals did not meet c...
Source: American Journal of Medical Genetics Part A - January 19, 2018 Category: Genetics & Stem Cells Authors: Bianca Qui ñones‐Pérez, Grace E. VanNoy, Meghan C. Towne, Yiping Shen, Michael N. Singh, Pankaj B. Agrawal, Sharon E. Smith Tags: ORIGINAL ARTICLE Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 560-569, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 19, 2018 Category: Genetics & Stem Cells Source Type: research

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
This report illustrates that LMS is an unequivocal cutis laxa syndrome and expands the clinical and molecular spectrum of this group of disorders. In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes. Further studies are needed to understand the link between PTDSS1 and extra cellular matrix assembly. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Authors: Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A. Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Fr édérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B. Sousa, Tags: CLINICAL REPORT Source Type: research

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Authors: Blaine Crowley , Melanie Ruffner , Donna M. McDonald McGinn , Kathleen E. Sullivan Source Type: research

Phenotypic heterogeneity of ZMPSTE24 deficiency
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Source Type: research

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A, Ahead of Print. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 551-559, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 668-675, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 682-686, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 657-662, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 699-702, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 570-577, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Source Type: research

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American Journal of Medical Genetics Part A,Volume 176, Issue 3, Page 676-681, March 2018. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Source Type: research

Phenotypic heterogeneity of ZMPSTE24 deficiency
A 4‐year‐old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman–Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c.1077dupT variant in ZMPSTE24 which predicts p.(Leu362fsX18). ZMPSTE24 is a zinc metalloproteinase that is involved in processing farnesylated proteins and pathogenic ZMPSTE24 variants cause accumulation of abnormal farnesylated forms of prelamin A. This, in turn, cau...
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Authors: Thomas A. Cassini, Amy K. Robertson, Anna G. Bican, Joy D. Cogan, Vickie L. Hannig, John H. Newman, Rizwan Hamid, John A. Phillips, Tags: CLINICAL REPORT Source Type: research

Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions
The purpose of this study was to analyze the risk of maternal autoimmune disease or associated treatments on infantile hemangiomas (IHs), a common benign vascular tumor in infants, and to better understand how maternal chronic inflammation may play a factor in the pathogenesis of these lesions. Eligible women from the United States and Canada who enrolled before 19 weeks’ gestation and delivered at least one live born infant were recruited as part of the Organization of Teratology Information Specialists (OTIS) Autoimmune Disease in Pregnancy Project from 2004–2013. A total of 51/969 (5.3%) and 8/240 (3.3%) inf...
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Authors: Chelsey J. F. Smith, Kenneth L. Jones, Diana L. Johnson, Gretchen Bandoli, Loan K. Robinson, Arthur Kavanaugh, Christina D. Chambers Tags: ORIGINAL ARTICLE Source Type: research

Intellectual disability and epilepsy due to the K/L ‐mediated Xq28 duplication: Further evidence of a distinct, dosage‐dependent phenotype
We report two additional families possessing the K/L‐mediated Xq28 duplication with affected males having intellectual disability and epilepsy similar to the previously reported phenotype. To our knowledge, this is the second cohort of individuals to be reported with this duplication and therefore supports K/L‐mediated Xq28 duplications as a distinct syndrome. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Authors: David Isum Ward, Bethany A. Buckley, Eyby Leon, Jullianne Diaz, Margaret Faust Galegos, Sean Hofherr, Amy Feldman Lewanda Tags: NEW SYNDROME Source Type: research

Bi ‐allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus
Congenital or infantile hydrocephalus is caused by genetic and non‐genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non‐syndromic congenital hydrocephalus in three reported families. Here, we report the fourth known family with two affected individuals with congenital hydrocephalus due to a homozygous mutation in the CCDC88C gene identified by whole exome sequencing. Our two newly described children, as well as the previously published o...
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Authors: Gaia Ruggeri, Andrew E. Timms, Chi Cheng, Avery Weiss, Peter Kollros, Teresa Chapman, Hannah Tully, Ghayda M. Mirzaa Tags: CLINICAL REPORT Source Type: research

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation
Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss‐of‐function mutations that affect the coding sequence of exon 3 or 4 of methyl‐CpG‐binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2‐related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has ...
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Authors: Narumi Tokaji, Hiromichi Ito, Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi, Aya Goji, Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami, Issei Imoto Tags: CLINICAL REPORT Source Type: research

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome
The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as a consequence of thymic hypoplasia, are the most commonly described immunologic feature. These are most prominently seen in early childhood and can be associated with increased persistence of viruses. Later in life, evidence of T cell exhaustion may be seen and secondary deficiencies of antibody function have been described. The rela...
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Authors: Blaine Crowley, Melanie Ruffner, Donna M. McDonald McGinn, Kathleen E. Sullivan Tags: ORIGINAL ARTICLE Source Type: research