PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research

A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
Infant with collodion membrane just after birth. Key Clinical MessageCoexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmental delay, is warranted in patients with these mutations. (Source: Clinical Case Reports)
Source: Clinical Case Reports - September 20, 2023 Category: General Medicine Authors: Zackary Shearer, Gwenevere White, John Zachary Steed, Carla Brown, Tara Venable, Megan Baber Tags: CASE REPORT Source Type: research

Two-year-old boy with sparse hair
Our patient was born full term and with no complications from non-consanguineous healthy parents. He was referred to the paediatrics department at 2 years of age for sparse hair. He had a history of recurrent and unexplained fever since he was 3 months old. He was unable to sweat and had dry skin. The maternal uncle of the proband, aged 20 years has the same complaint. On examination, the growth and the mental development were normal. He had skin, hair (figure 1) and teeth (figure 2) abnormalities. His temperature was 38.3°C. The rest of the examination was unremarkable. Screening for sepsis was negative. Test your kno...
Source: Archives of Disease in Childhood - Education and Practice - September 20, 2023 Category: Pediatrics Authors: Barakizou, H. Tags: Epilogue Source Type: research

Congenital Ichthyosis: A Practical Clinical Guide on Current Treatments and Future Perspectives
Clin Cosmet Investig Dermatol. 2023 Sep 11;16:2473-2479. doi: 10.2147/CCID.S388608. eCollection 2023.ABSTRACTCongenital ichthyoses are a group of hereditary disorders of keratinization that are challenging to treat. Affected individuals suffer not only from thickening of the skin but also associated complications such as growth restriction, hearing and eye complications, infections, and thermodysregulation. This clinical review provides a practical roadmap to the longitudinal care of patients with ichthyosis with both general and age- and disease-specific recommendations. The allure of pathogenesis-based and targeted treat...
Source: Clinical, Cosmetic and Investigational Dermatology - September 18, 2023 Category: Dermatology Authors: Evelyn Lilly Christopher G Bunick Source Type: research

High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "R éunion Paradox"
Eur J Med Genet. 2023 Sep 12:104842. doi: 10.1016/j.ejmg.2023.104842. Online ahead of print.ABSTRACTLamellar ichthyosis (LI) is an autosomal recessive congenital ichthyosis characterized by generalized dry skin and severe scaling. It is caused by biallelic mutations in the TGM1 gene, however molecular data from non-Caucasian populations are limited. Results of genetic-molecular analysis of a group of LI pedigrees originating from two close small populations from south Mexico are presented. LI affected individuals belonging to 9 apparently unrelated families were studied. Exome sequencing or Sanger sequencing in probands fr...
Source: European Journal of Medical Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: O F Chacon-Camacho M C Astiazar án G Vera-Duarte H Guti érrez-Múgica N Macriz-Romero E O Graue-Hernandez J C Zenteno Source Type: research

High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the "R éunion Paradox"
Eur J Med Genet. 2023 Sep 12:104842. doi: 10.1016/j.ejmg.2023.104842. Online ahead of print.ABSTRACTLamellar ichthyosis (LI) is an autosomal recessive congenital ichthyosis characterized by generalized dry skin and severe scaling. It is caused by biallelic mutations in the TGM1 gene, however molecular data from non-Caucasian populations are limited. Results of genetic-molecular analysis of a group of LI pedigrees originating from two close small populations from south Mexico are presented. LI affected individuals belonging to 9 apparently unrelated families were studied. Exome sequencing or Sanger sequencing in probands fr...
Source: European Journal of Medical Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: O F Chacon-Camacho M C Astiazar án G Vera-Duarte H Guti érrez-Múgica N Macriz-Romero E O Graue-Hernandez J C Zenteno Source Type: research

Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
We describe a 14-year-old male born to non-consanguineous parents with unremarkable family history. The patient had fetal ascites, neonatal pancreatic insufficiency with consequent failure to thrive, feeding difficulties, recurrent infections and sepsis. The skin examination was remarkable for an ichthyosis with conspicuous palmoplantar keratoderma, sparse and brittle hair with alopecia on the vertex and slight bilateral ectropion. He had short stature, thin build, frontal bossing, small teeth and prominent abdomen. Additional features were congenital profound bilateral sensorineural deafness, photosensitivity and photopho...
Source: European Journal of Medical Genetics - September 1, 2023 Category: Genetics & Stem Cells Authors: Alice P Vasconcelos Ana Nogueira Pedro Matos Joel Pinto Maria Jo ão Pinho Susana Fernandes Sofia Doria Carla Pinto Moura Source Type: research

Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
We describe a 14-year-old male born to non-consanguineous parents with unremarkable family history. The patient had fetal ascites, neonatal pancreatic insufficiency with consequent failure to thrive, feeding difficulties, recurrent infections and sepsis. The skin examination was remarkable for an ichthyosis with conspicuous palmoplantar keratoderma, sparse and brittle hair with alopecia on the vertex and slight bilateral ectropion. He had short stature, thin build, frontal bossing, small teeth and prominent abdomen. Additional features were congenital profound bilateral sensorineural deafness, photosensitivity and photopho...
Source: European Journal of Medical Genetics - September 1, 2023 Category: Genetics & Stem Cells Authors: Alice P Vasconcelos Ana Nogueira Pedro Matos Joel Pinto Maria Jo ão Pinho Susana Fernandes Sofia Doria Carla Pinto Moura Source Type: research

A founder DBR1 variant causes a lethal form of congenital ichthyosis
We describe a distinct allelic disorder caused by a founder recessiveDBR1 variant in four families (DBR1(NM_016216.4):c.200A  >  G (p.Tyr67Cys)). Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life. Patient-derived fibroblasts displayed the characteristic accumul ation of intron lariats in their RNA as revealed by targeted and untargeted analysis, in addition to a marked reduction of DBR1 on immunoblot analysis. We propose a novelDBR1-related developmental...
Source: Human Genetics - September 1, 2023 Category: Genetics & Stem Cells Source Type: research