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Volume 13
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10.3390/genes13040662
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Case Report

Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

by
Khurram Liaqat
1,2,
Shabir Hussain
3,
Anushree Acharya
1,
Abdul Nasir
4,
Thashi Bharadwaj
1,
Muhammad Ansar
3,
Sulman Basit
5,
Isabelle Schrauwen
1,
Wasim Ahmad
3 and
Suzanne M. Leal
1,6,*
1
Center for Statistical Genetics, Gertrude H. Sergievsky Center, The Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
2
Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan
3
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan
4
Synthetic Protein Engineering Lab (SPEL), Department of Molecular Science and Technology, Ajou University, Suwon 443-749, Korea
5
Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawarah, Medina 42318, Saudi Arabia
6
Taub Institute for Alzheimer’s Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA
*
Author to whom correspondence should be addressed.
Genes 2022, 13(4), 662; https://doi.org/10.3390/genes13040662
Submission received: 17 February 2022 / Revised: 4 April 2022 / Accepted: 6 April 2022 / Published: 9 April 2022
(This article belongs to the Special Issue Genetic Basis of Sensory and Neurological Disorders)
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Abstract

Atypical Gaucher disease is caused by variants in the PSAP gene. Saposin C is one of four homologous proteins derived from sequential cleavage of the saposin precursor protein, prosaposin. It is an essential activator for glucocerebrosidase, which is deficient in Gaucher disease. Although atypical Gaucher disease due to deficiency of saposin C is rare, it exhibits vast phenotypic heterogeneity. Here, we report on a Pakistani family that exhibits features of Gaucher disease, i.e., prelingual profound sensorineural hearing impairment, vestibular dysfunction, hepatosplenomegaly, kyphosis, and thrombocytopenia. The family was investigated using exome and Sanger sequencing. A homozygous missense variant c.1076A>C: p.(Glu359Ala) in exon 10 of the PSAP gene was observed in all affected family members. In conclusion, we identified a new likely pathogenic missense variant in PSAP in a large consanguineous Pakistani family with atypical Gaucher disease. Gaucher disease due to a deficiency of saposin C has not been previously reported within the Pakistani population. Genetic screening of patients with the aforementioned phenotypes could ensure adequate follow-up and the prevention of further complications. Our finding expands the genetic and phenotypic spectrum of atypical Gaucher disease due to a saposin C deficiency.
Keywords: atypical Gaucher disease; hearing impairment; exome sequencing; saposin C atypical Gaucher disease; hearing impairment; exome sequencing; saposin C

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MDPI and ACS Style

Liaqat, K.; Hussain, S.; Acharya, A.; Nasir, A.; Bharadwaj, T.; Ansar, M.; Basit, S.; Schrauwen, I.; Ahmad, W.; Leal, S.M. Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes 2022, 13, 662. https://doi.org/10.3390/genes13040662

AMA Style

Liaqat K, Hussain S, Acharya A, Nasir A, Bharadwaj T, Ansar M, Basit S, Schrauwen I, Ahmad W, Leal SM. Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes. 2022; 13(4):662. https://doi.org/10.3390/genes13040662

Chicago/Turabian Style

Liaqat, Khurram, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi Bharadwaj, Muhammad Ansar, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, and Suzanne M. Leal. 2022. "Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family" Genes 13, no. 4: 662. https://doi.org/10.3390/genes13040662

APA Style

Liaqat, K., Hussain, S., Acharya, A., Nasir, A., Bharadwaj, T., Ansar, M., Basit, S., Schrauwen, I., Ahmad, W., & Leal, S. M. (2022). Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes, 13(4), 662. https://doi.org/10.3390/genes13040662

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