Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5 ′UTR of < b > < i > EFNB1 < /i > < /b >
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused byEFNB1 mutations in which females are more severely affected than males. Severe male phenotypes are associated with mosaicism, supporting cellular interference for sex bias in this disease. Although many variants have been found in the coding region ofEFNB1, only 2 pathogenic variants have been identified in the same nucleotide in 5 ′UTR, disrupting the stop codon of an upstream open reading frame (uORF). uORFs are known to be part of a wide range of post-transcriptional regulation processes, and just recently, their association with human diseases has com...
Source: Molecular Syndromology - July 2, 2018 Category: Molecular Biology Source Type: research
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases
We report 3 cases of SGB syndrome in 2 consecutive pregnancies. In our series, distinctive prenatal sonographic findings led to molecular diagnosis. Exome sequencing from fetal DNA revealed a hemizygous splice site variant in theGPC3 gene: NM_004484.3:c.1166+ 1G>T. The mother is a heterozygous carrier. We also provide an overview of the previously published 57 prenatal cases of SGB syndrome with prevalence estimation of the symptoms to aid prenatal differential diagnosis of fetal overgrowth syndromes.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - June 7, 2018 Category: Molecular Biology Source Type: research
A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome
We report a new case of a girl with a pure 2-Mb duplication at 3q26.2 not encompassing the known critical region 3q26.3q27. After an extensive review, to the best of our knowledge, the case herein presented harbors the shortest 3q duplication of this region. The clinical phenotype of this patient resembles previously reported cases of pure dup(3q) syndrome, including intellectual disability, synophrys, a wide nasal bridge, dysmorphic ears, clinodactyly, and cardiac defects. We suggest that the 3q26.2 duplication is a candidate copy number alteration explaining our patient's clinical phenotype.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - June 7, 2018 Category: Molecular Biology Source Type: research
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in < b > < i > EFEMP2 < /i > < /b >
We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already seen during the second trimester of pregnancy, then confirmed and clarified at autopsy. Anomalies included cutis laxa, arachnodactyly, clubfoot, wormian bones, moderate bowing of long bones with slender bone trabeculae, rib fractures, undermuscularized diaphragm, hiatal hernia, and arterial tortuosity with thick vascular walls and disorganized elastic fibers. Sequencing of theEFEMP2 gene revealed a novel homozygous nonsense mutation: c.639C>A (p.Cys213*). W...
Source: Molecular Syndromology - June 7, 2018 Category: Molecular Biology Source Type: research
Atypical Skin Manifestations in < b > < i > FGFR2 < /i > < /b > -Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum
Crouzon syndrome (CS) and Beare-Stevenson syndrome (BSS) are craniosynostosis syndromes caused by mutations in the fibroblast growth factor 2 (FGFR2) gene. CS is more common (1 in 60,000 live births) than BSS, where fewer than 20 individuals have been reported. The cardinal features of BSS are craniosynostosis, cutis gyrata, acanthosis nigricans, skin furrows, skin tags, anogenital anomalies, and a prominent umbilical stump. Previously described individuals with BSS have typically had mutations in exon 11 ofFGFR2. Here, we present 2 patients with CS who have significant skin manifestations and some phenotypic overlap with ...
Source: Molecular Syndromology - May 30, 2018 Category: Molecular Biology Source Type: research
