Cargando…

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

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 G...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liaqat, Khurram, Hussain, Shabir, Acharya, Anushree, Nasir, Abdul, Bharadwaj, Thashi, Ansar, Muhammad, Basit, Sulman, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9028228/ https://www.ncbi.nlm.nih.gov/pubmed/35456468 http://dx.doi.org/10.3390/genes13040662

Ejemplares similares

Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
por: Acharya, Anushree, et al.
Publicado: (2021)

Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
por: Acharya, Anushree, et al.
Publicado: (2021)

Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment
por: Schrauwen, Isabelle, et al.
Publicado: (2020)

Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment
por: Liaqat, Khurram, et al.
Publicado: (2018)

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family
por: Basit, Sulman, et al.
Publicado: (2008)

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment
por: Adadey, Samuel M., et al.
Publicado: (2021)

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family
por: Khan, Amjad, et al.
Publicado: (2020)

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
por: Liaqat, Khurram, et al.
Publicado: (2019)

Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
por: Liaqat, Khurram, et al.
Publicado: (2021)

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
por: Kousar, Rizwana, et al.
Publicado: (2011)

A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family
por: Khan, Amjad, et al.
Publicado: (2017)

The First Report of a Missense Variant in RFX2 Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family
por: Khan, Sher Alam, et al.
Publicado: (2022)

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family
por: Aziz, Nobia, et al.
Publicado: (2023)

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family
por: Kausar, Mehran, et al.
Publicado: (2019)

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family
por: Gauhar, Zeeshan, et al.
Publicado: (2022)

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
por: Bigoni, Stefania, et al.
Publicado: (2019)

Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India
por: Sheth, Jayesh, et al.
Publicado: (2023)

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report
por: Ullah, Muhammad Ikram, et al.
Publicado: (2018)

A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family
por: Dil, Sobia, et al.
Publicado: (2022)

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family
por: Ramzan, Shafaq, et al.
Publicado: (2021)

Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior
por: Badshah, Noor, et al.
Publicado: (2022)

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees
por: Rao, Ali Raza, et al.
Publicado: (2023)

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment
por: Schrauwen, Isabelle, et al.
Publicado: (2018)

Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families
por: Marwan, Muhammad, et al.
Publicado: (2023)

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
por: Khan, Shazia, et al.
Publicado: (2019)

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1
por: Yasmeen, Afshan, et al.
Publicado: (2010)

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
por: Afzal, Sibtain, et al.
Publicado: (2020)

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel
por: Aharoni, Sharon, et al.
Publicado: (2016)

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
por: Chen, Kui, et al.
Publicado: (2017)

A Novel Variant in VPS13B Underlying Cohen Syndrome
por: Hussain, Abrar, et al.
Publicado: (2023)

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
por: Saadi, Saadia Maryam, et al.
Publicado: (2023)

A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV
por: Hussain, Shabir, et al.
Publicado: (2022)

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa
por: Ali, Shahbaz, et al.
Publicado: (2011)

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
por: Khan, Muzammil Ahmad, et al.
Publicado: (2011)

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin
por: Ravesh, Zeinab, et al.
Publicado: (2015)

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1
por: Piñeiro-Gallego, Teresa, et al.
Publicado: (2011)

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
por: Kabir, Firoz, et al.
Publicado: (2013)

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
por: Ilyas, Muhammad, et al.
Publicado: (2020)

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
por: Makrythanasis, Periklis, et al.
Publicado: (2016)

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment
por: Wonkam-Tingang, Edmond, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_3i9psf5bv19n383c7hh0bng9cq