A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan

  title={A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan},
  author={M. Nusrat and M. Tariq and Saher Aslam and A. Zil-E-Ali and Marwah Shahid and S. Mahmood},
Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Hirschsprung disease is unique to Waardenburg-Shah syndrome subtype 4 and is not associated with any other subtype. We present a case of this subtype 4 that… Expand
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
An exact description of the mutations responsible for WS provides useful information to explain the molecular cause of clinical features of WS and contributes to better genetic counseling of WS patients and their families. Expand
Brainstem Organoids From Human Pluripotent Stem Cells
Single-cell RNA sequence (scRNA-seq) analysis, together with evidence from proteomics and electrophysiology, revealed that the cellular population in these organoids was similar to that of the human brainstem, which raises the possibility of making use of hBSOs in investigating central nervous system disorders affecting brainstem and in efficient drug screenings. Expand
Brainstem organoids from human pluripotent stem cells contain neural crest population
Single-cell RNA sequence analysis revealed that the cellular population in these organoids was similar to that of the human brainstem and neural crest, which raises the possibility of making use of hBSOs in grafting for transplantation, efficient drug screenings and modeling the neural crest diseases. Expand


Waardenburg syndrome.
People with Waardenburg syndrome often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye, and changes in coloring of the hair, skin, and eyes. Expand
Association of Shah-Waardenburgh syndrome: a review of 6 cases.
Depigmentation with a white forelock and skin manifestations are common, whereas blue iris, long segment disease, and enterocolitis are present in nearly half of the patients, while Shah-Waardenburg syndrome is an uncommon association of HD. Expand
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
  • J. Verheij, D. Sival, +4 authors A. V. van Essen
  • Medicine
  • European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2006
A 4-year-old girl with the PCWH phenotype associated with a de novo nonsense mutation (S384X) in SOX10 was presented with mental retardation, peripheral neuropathy, deafness, Hirschsprung disease, distal arthrogryposis, white hairlock, and growth retardation. Expand
Heterogeneity in Waardenburg syndrome.
The incidence of bilateral deafness in the two types of the Waardenburg syndrome was found in one-fourth with type I and about half of the patients with type II, which has important consequences for genetic counseling. Expand
Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes.
The genetic aspects of HD occurring in association with trisomy 21 and WS are reviewed, and an increased susceptibility to severe enterocolitis associated with a high mortality rate is reported. Expand
Worldwide Distribution of Waardenburg Syndrome
To clarify the multiracial occurrence of Waardenburg syndrome, a case series and literature review is presented and the clinical features of 2 family cohorts are detailed: one of Western European origin and the other from South Asia. Expand
Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.
The role of EDNRB in the cause of the Waardenburg-Hirschsprung syndrome is confirmed and there is a lack of correlation between phenotype and genotype and a variable expression of disease even within the same family. Expand
White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.
3. BOhmer T, Bergremn H, and Eiklid K: Carnitine deficiency induced during intermittent haemodialysis for renal failure, Lancet 1:126, 1978. 4. Daubresse JC, Lerson G, Plomteux G, Luyckx AS, andExpand
Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene.
Segregation and linkage analysis was performed on published data on 5 families segregating for Waardenburg syndrome and Hirschsprung disease, showing a single dominant gene with pleiotropic effects leading to WS and HRSD, with a more severe phenotype in homozygotes. Expand
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
In situ hybridization experiments carried out in the dominant megacolon mouse, confirmed that SOX10 dysfunction impairs MITF: expression as well as melanocytic development and survival, which could explain the auditory-pigmentary symptoms of this disease. Expand