A novel mutation inCDKN1Cin sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

2012 ◽  
Vol 161 (1) ◽  
pp. 192-197 ◽  
Author(s):  
Piranit Nik Kantaputra ◽  
Rekwan Sittiwangkul ◽  
Nuntigar Sonsuwan ◽  
Valeria Romanelli ◽  
Jair Tenorio ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cleft Palate ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Sensorineural Hearing

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

2010 ◽  
Vol 16 (2) ◽  
pp. 93-105 ◽  
Author(s):  
Anne-Martine R. de Heer ◽  
Rob W.J. Collin ◽  
Patrick L.M. Huygen ◽  
Margit Schraders ◽  
Jaap Oostrik ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Vestibular Function ◽  
Sensorineural Hearing

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker–Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss

2018 ◽  
Vol 49 (04) ◽  
pp. 289-295 ◽  
Author(s):  
Muna Al Dhaibani ◽  
Ayman El-Hattab ◽  
Omar Ismayl ◽  
Jehan Suleiman
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy ◽  
Craniocervical Junction ◽  
Epileptic Encephalopathy ◽  
Brain Disease ◽  
West Syndrome ◽  
Sensorineural Hearing ◽  
Muscle Disease

AbstractMutations in B3GALNT2, encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2-related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2. The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia. The clinical and radiologic findings are compatible with a diagnosis of severe muscle-eye-brain disease and more specifically Walker–Warburg syndrome. A more distinct aspect of the clinical phenotype in this child is the presence of refractory epilepsy in the form of epileptic spasms, epileptic encephalopathy, and West syndrome, as well as sensorineural hearing loss. These findings could expand the phenotype of B3GALNT2-related dystroglycanopathy. In this report, we also provide a detailed review of previously reported cases with B3GALNT2-related dystroglycanopathy and compare them to our reported child. In addition, we study the genotype–phenotype correlation in these cases.

Genitopatellar syndrome, sensorineural hearing loss, and cleft palate

2010 ◽  
Vol 15 (2) ◽  
pp. 103-106 ◽  
Author(s):  
Corinna Bergmann ◽  
Susanne Spranger ◽  
Poupak Javaher ◽  
Martin Ptok
Keyword(s):  
Hearing Loss ◽  
Cleft Palate ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss

2009 ◽  
Vol 73 (10) ◽  
pp. 1458-1463 ◽  
Author(s):  
Elona Cama ◽  
Maria Stella Alemanno ◽  
Emanuele Bellacchio ◽  
Rosamaria Santarelli ◽  
Massimo Carella ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Sensorineural Hearing ◽  
Slc26a4 Gene

A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family

2018 ◽  
Vol 63 (6) ◽  
pp. 723-730 ◽  
Author(s):  
Yuyuan Deng ◽  
Zhijie Niu ◽  
LiangLiang Fan ◽  
Jie Ling ◽  
Hongsheng Chen ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Sensorineural Hearing ◽  
Chinese Family

scholarly journals Autosomal Dominant Progressive Sensorineural Hearing Loss Due to a Novel Mutation in the KCNQ4 Gene

2011 ◽  
Vol 137 (1) ◽  
pp. 54 ◽  
Author(s):  
Jameson Arnett ◽  
Sarah B. Emery ◽  
Theresa B. Kim ◽  
Angelique K. Boerst ◽  
Kwanghyuk Lee ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Sensorineural Hearing

Novel Mutation in the Homeobox Domain of Transcription Factor POU3F4 Associated With Profound Sensorineural Hearing Loss

2011 ◽  
Vol 32 (4) ◽  
pp. 690-694 ◽  
Author(s):  
Christian Schild ◽  
Erick Prera ◽  
Nicola Lüblinghoff ◽  
Susan Arndt ◽  
Antje Aschendorff ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Sensorineural Hearing
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