Am J Med Genet A. 2021 Sep 30. doi: 10.1002/ajmg.a.62501. Online ahead of print.ABSTRACTWoodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 gene. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant with striking phenotypic heterogeneity....

Cureus. 2021 Aug 24;13(8):e17403. doi: 10.7759/cureus.17403. eCollection 2021 Aug.ABSTRACT3MC syndrome is a rare genetic disorder inherited through an autosomal recessive inheritance pattern caused by mutations in one of three genes: COLEC11, COLEC10, and MASP1. High-arched brows, ptosis, blepharophimosis, hypertelorism, cleft lip, cleft palate, developmental...

Sci Rep. 2021 Sep 29;11(1):19368. doi: 10.1038/s41598-021-98816-w.ABSTRACTThe mammalian inner ear has a limited capacity to regenerate its mechanosensory hair cells. This lack of regenerative capacity underlies the high incidence of age-related hearing loss in humans. In contrast, non-mammalian vertebrates can form new hair cells when damage occurs,...

J Clin Lab Anal. 2021 Sep 28:e24024. doi: 10.1002/jcla.24024. Online ahead of print.ABSTRACTOBJECTIVE: Autosomal-recessive nonsyndromic hearing loss (ARNSHL) is a heterogeneous genetic disorder. Mutations in the gap junction protein beta 2 (GJB2) gene, encoding connexin 26, are a significant cause of ARNSHL in different ethnic groups. This study aimed...

Diagnostics (Basel). 2021 Sep 7;11(9):1636. doi: 10.3390/diagnostics11091636.ABSTRACTWe describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child's mother (and some of her relatives)...

Genes (Basel). 2021 Sep 11;12(9):1404. doi: 10.3390/genes12091404.ABSTRACTThis study investigated the phenotypic spectrum of PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and early-onset cataract) syndrome caused by biallelic variants in the ABHD12 gene. A total of 15 patients from 12 different families were included, with a mean...