Dominant deafness-onychodystrophy syndrome caused by anATP6V1B2mutation
نویسندگان
چکیده
منابع مشابه
Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
Our report clarifies the role of ATP6V1B2 in patients with deafness and onycho-osteodystrophy and confirms that a recurring ATP6V1B2 c.1516C>T [p.(Arg506*)], variant causes dominant deafness-onychodystrophy (DDOD) syndrome.
متن کاملDominant anonychia and onychodystrophy.
Case 1. The grandfather, II.3, born in 1889, suffers from lymphatic leukaemia and diabetes. As can be seen in Fig. 2a, the hands show complete anonychia of the thumb, the forefinger, and the middle finger, with nail-bed vestiges present as small ridges on the outer finger edges. The fourth and fifth fingers show the absence of nails in the central part, and two small atrophied nail lamellae on ...
متن کاملTietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.
Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reporte...
متن کاملAdams Oliver Syndrome and Congenital Deafness
Admas-Oliver syndrome is a rare autosomal dominant disease of congenital development defects association with aplasia cutis. All of 81 reported cases were of 32 group families. These two cases had congenital scalp cutis aplasia with developmental defect and hypoplasia of left foot digits in case 1.Congenital deaf-mute in both can added to the past known findings in this syndrome. Thoracic defor...
متن کاملAutosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis, and congenital contractures of the limbs. MPS typically segregates as an autosomal-recessive disorder, but rare instances of autosomal-dominant transmission have been reported. Whereas several mutations causing recessive MPS have b...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2017
ISSN: 2050-0904
DOI: 10.1002/ccr3.761