Multiplex Consanguineous Family Highlights

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Aug 2024
Historique:
received: 13 05 2024
accepted: 10 06 2024
medline: 23 7 2024
pubmed: 23 7 2024
entrez: 23 7 2024
Statut: epublish

Résumé

Noncentrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CLASP family of molecules. To date, no human monogenic disorder has been associated with the We analyzed clinical characteristics, MRI data, and genotypes of a cohort of 3 patients with homozygous variants in CLASP1. Homozygous This study underscores the role of CLASP1 in brain development and suggests that the identified variant disrupts CLASP1 interaction with the microtubule cytoskeleton, contributing to lissencephaly pathogenesis.

Sections du résumé

Background and Objectives UNASSIGNED
Noncentrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CLASP family of molecules. To date, no human monogenic disorder has been associated with the
Methods UNASSIGNED
We analyzed clinical characteristics, MRI data, and genotypes of a cohort of 3 patients with homozygous variants in CLASP1.
Results UNASSIGNED
Homozygous
Discussion UNASSIGNED
This study underscores the role of CLASP1 in brain development and suggests that the identified variant disrupts CLASP1 interaction with the microtubule cytoskeleton, contributing to lissencephaly pathogenesis.

Identifiants

DOI: 10.1212/NXG.0000000000200172 PMID: 39040917 PMC: PMC11261580
pubmed: 39040917
doi: 10.1212/NXG.0000000000200172
pii: NXG-2024-100133DN
pmc: PMC11261580
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e200172

Informations de copyright

Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Déclaration de conflit d'intérêts

The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures.

Auteurs

Rawan Alsafh (R)

From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.

Amal Alhashem (A)

From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.
ORCID: 0000-0002-9668-7809

Aly Elsyed (A)

From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.
ORCID: 0000-0002-4556-8201

Zafer Yüksel (Z)

From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.

Kalthoum Graiess-Tlili (K)

From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.

Khalid Hundallah (K)

From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.

Farah Thabet (F)

From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.
ORCID: 0000-0003-4824-5691

Brahim Tabarki (B)

From the Division of Pediatric Neurology (R.A., K.H., B.T.); Division of Genetics (A.A.), Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia; Department of Pediatrics (A.E.), King Fahad Military Medical Complex, Dhahran, Saudi Arabia; Bioscientia Human Genetics (Z.Y.), Bioscientia Institut für Medizinische Diagnostik GmbH, Ingelheim, Germany; Department of Radiology (K.G.-T.), Sahloul University Hospital, Sousse; and Department of Pediatrics (F.T.), Fattouma Bourguiba University Hospital, Monastir, Tunisia.
ORCID: 0000-0001-6240-0489

Classifications MeSH