Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

The DIAPH1 gene fulfills critical immune and neurodevelopmental roles. It encodes the mammalian Diaphanous-related formin (mDia1) protein, which acts downstream of Rho GTPases to promote F-actin polymerization and stabilize microtubules. During mitosis, this protein is expressed in human neuronal pr...

Full description

Saved in:

Bibliographic Details
Main Authors:	Hossein Esmaeilzadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Sayyed Hesamedin Nabavizadeh, Soheila Sadat Alyasin
Format:	Article
Language:	English
Published:	Wiley 2022-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2022/4142214
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
by: Khalid Alwunais, et al.
Published: (2025-05-01)

Severe Allergic Bronchopulmonary Mycosis and Long-Term Follow-Up
by: Hossein Esmaeilzadeh, et al.
Published: (2018-01-01)

Homozygous variant FOXE3 causes autosomal recessive anterior segment dysgenesis type 2: a case report
by: Zuha Alkhaldi, et al.
Published: (2023-02-01)

Rare homozygous CNPY3 variant causing autosomal recessive developmental and epileptic encephalopathy 60: A case report
by: Nohela Rehman, et al.
Published: (2025-01-01)

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene
by: Alghamdi OA, et al.
Published: (2025-06-01)

The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis
by: Poulami Majumder, et al.
Published: (2013-01-01)

Exome sequencing identifies a homozygous splice site variant in RP1 as the underlying cause of autosomal recessive retinitis pigmentosa in a Pakistani family
by: Abdur Rashid, et al.
Published: (2025-12-01)

Contribution to clinical characterization of autosomal recessive hereditary ataxias
by: Emília Katiane Embiruçu
Published: (2011-08-01)

Unilateral focal choroidal excavation in autosomal recessive bestrophinopathy
by: Neha Goel
Published: (2025-01-01)

Typical presentation of autosomal recessive oculocutaneous albinism in two siblings
by: Nishant, Prateek, et al.
Published: (2025-04-01)

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review
by: Dan Chen, et al.
Published: (2025-02-01)

Central nervous system aspergillosis in an immunocompetent patient
by: Şükran Köse, et al.
Published: (2011-03-01)

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy
by: Sylvie Gerber, et al.
Published: (2023-07-01)

Holoprosencephaly anomaly with nasal and premaxillar agenesis (possibly autosomal recessive type)
by: S Durmuş Aydoğdu, et al.
Published: (1994-04-01)

A clinical case of autosomal recessive agammaglobulinemia with B-cell deficiency
by: E. V. Negodnova, et al.
Published: (2024-01-01)

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
by: Anissa Zaouak, MD, et al.
Published: (2024-10-01)

Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family
by: Hong-ping Yu, et al.
Published: (2025-05-01)

A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review
by: Emran Esmaeilzadeh, et al.
Published: (2024-11-01)

Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients
by: E. L. Dadali, et al.
Published: (2017-11-01)

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance
by: G Eda Utine, et al.
Published: (2008-06-01)

Negative cooperativity regulates ligand activation of DIAPH1 and other diaphanous related formins
by: G. G. Theophall, et al.
Published: (2025-05-01)

Coexistence of Griscelli Syndrome Type 2 and Autosomal Recessive Congenital Ichthyosis in an Indian Girl
by: Yashika Jayesh Doshi, et al.
Published: (2025-04-01)

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy
by: Mahpara Hasan, et al.
Published: (2022-01-01)

Prenatal Ultrasound Diagnostics of Autosomal Recessive Polycystic Kidney Disease in Fetus: Clinical Case
by: Nodira M. Normuradova, et al.
Published: (2022-05-01)

Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
by: Ying Xie, et al.
Published: (2025-07-01)

Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report
by: Julia V. Almeida, et al.
Published: (2025-05-01)

Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient
by: Kavitha Ramar, et al.
Published: (2014-01-01)

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene
by: Thashi Bharadwaj, et al.
Published: (2024-12-01)

A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy
by: Nagham Maher Elbagoury, et al.
Published: (2025-05-01)

Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency
by: Saddaf Ayub, et al.
Published: (2025-01-01)

ELECTROPHYSIOLOGICAL CHARACTERISTICS OF AUTOSOMAL-RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY IN A TURKISH FAMILY
by: Lala Mehdikhanova, et al.
Published: (2022-03-01)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil
by: Daniela Burguêz, et al.

Molecular characterization of autosomal recessive Glycogen storage disease type Ib in a Pakistani family
by: Zeeshan Nazir, et al.
Published: (2025-03-01)

Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene
by: Eda Çelebi Bitkin, et al.
Published: (2022-06-01)

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population
by: Pam A.T. Heutinck, et al.
Published: (2025-07-01)

Correction: Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
by: Ying Xie, et al.
Published: (2025-08-01)

Ultrasound diagnosis of the perinatal form of autosomal recessive polycystic kidney disease at 29 weeks of gestation
by: Ravikanth Reddy
Published: (2022-01-01)

Prostatic cyst in autosomal recessive polycystic kidney disease: A case presentation and literature review
by: Ketty Bai, et al.
Published: (2024-11-01)

Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data
by: Matthias Christoph Braunisch, et al.
Published: (2025-07-01)

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
by: Jinglan Zhang, et al.
Published: (2016-04-01)