A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21

A. Rajab, G. H. Mochida, A. Hill, V. Ganesh, A. Bodell, A. Riaz, P. E. Grant, Y. Y. Shugart, Christopher A. Walsh

Research output: Contribution to journalArticle

Abstract

Objective: To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus. Background: PCH is a heterogeneous group of disorders that are characterized by abnormally small cerebellum and brainstem. Autosomal recessive inheritance has been implied in many cases, but no genetic loci have been mapped to date. Methods: The authors studied a consanguineous family from the Sultanate of Oman with three siblings with a novel form of PCH. The authors performed clinical studies and linkage analysis of this pedigree. Results: The clinical features of the affected children include developmental delay, progressive microcephaly with brachycephaly, seizures during the first year of life, hypotonia with hyperreflexia, short stature, and optic atrophy. Imaging studies showed a small pons and cerebellum, prominent sulci and lateral ventricles, and decreased cerebral white matter volume. A lack of dyskinesias distinguishes this pedigree from PCH type 2. Genetic studies of this family revealed evidence of significant linkage to chromosome 7q11-21 (maximum multipoint lod score 3.23). Conclusions: This pedigree represents a novel form of autosomal recessive PCH, which the authors propose to call cerebellar atrophy with progressive microcephaly (CLAM). This disorder maps to chromosome 7q11-21, and this locus was named CLAM. This report represents the first identification of a genetic locus for PCH.

Original languageEnglish (US)
Pages (from-to)1664-1667
Number of pages4
JournalNeurology
Volume60
Issue number10
StatePublished - May 27 2003

Fingerprint

Chromosomes, Human, Pair 21
Genetic Loci
Pedigree
Cerebellum
Oman
Lod Score
Optic Atrophy
Craniosynostoses
Abnormal Reflexes
Microcephaly
Muscle Hypotonia
Pons
Lateral Ventricles
Dyskinesias
Brain Stem
Siblings
Seizures
Pontocerebellar Hypoplasia

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Rajab, A., Mochida, G. H., Hill, A., Ganesh, V., Bodell, A., Riaz, A., ... Walsh, C. A. (2003). A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology, 60(10), 1664-1667.

A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. / Rajab, A.; Mochida, G. H.; Hill, A.; Ganesh, V.; Bodell, A.; Riaz, A.; Grant, P. E.; Shugart, Y. Y.; Walsh, Christopher A.

In: Neurology, Vol. 60, No. 10, 27.05.2003, p. 1664-1667.

Research output: Contribution to journalArticle

Rajab, A, Mochida, GH, Hill, A, Ganesh, V, Bodell, A, Riaz, A, Grant, PE, Shugart, YY & Walsh, CA 2003, 'A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21', Neurology, vol. 60, no. 10, pp. 1664-1667.
Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A et al. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology. 2003 May 27;60(10):1664-1667.
Rajab, A. ; Mochida, G. H. ; Hill, A. ; Ganesh, V. ; Bodell, A. ; Riaz, A. ; Grant, P. E. ; Shugart, Y. Y. ; Walsh, Christopher A. / A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. In: Neurology. 2003 ; Vol. 60, No. 10. pp. 1664-1667.
@article{d584af557c5e47319e7e8422270741a9,
title = "A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21",
abstract = "Objective: To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus. Background: PCH is a heterogeneous group of disorders that are characterized by abnormally small cerebellum and brainstem. Autosomal recessive inheritance has been implied in many cases, but no genetic loci have been mapped to date. Methods: The authors studied a consanguineous family from the Sultanate of Oman with three siblings with a novel form of PCH. The authors performed clinical studies and linkage analysis of this pedigree. Results: The clinical features of the affected children include developmental delay, progressive microcephaly with brachycephaly, seizures during the first year of life, hypotonia with hyperreflexia, short stature, and optic atrophy. Imaging studies showed a small pons and cerebellum, prominent sulci and lateral ventricles, and decreased cerebral white matter volume. A lack of dyskinesias distinguishes this pedigree from PCH type 2. Genetic studies of this family revealed evidence of significant linkage to chromosome 7q11-21 (maximum multipoint lod score 3.23). Conclusions: This pedigree represents a novel form of autosomal recessive PCH, which the authors propose to call cerebellar atrophy with progressive microcephaly (CLAM). This disorder maps to chromosome 7q11-21, and this locus was named CLAM. This report represents the first identification of a genetic locus for PCH.",
author = "A. Rajab and Mochida, {G. H.} and A. Hill and V. Ganesh and A. Bodell and A. Riaz and Grant, {P. E.} and Shugart, {Y. Y.} and Walsh, {Christopher A.}",
year = "2003",
month = "5",
day = "27",
language = "English (US)",
volume = "60",
pages = "1664--1667",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "10",

}

TY - JOUR

T1 - A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21

AU - Rajab, A.

AU - Mochida, G. H.

AU - Hill, A.

AU - Ganesh, V.

AU - Bodell, A.

AU - Riaz, A.

AU - Grant, P. E.

AU - Shugart, Y. Y.

AU - Walsh, Christopher A.

PY - 2003/5/27

Y1 - 2003/5/27

N2 - Objective: To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus. Background: PCH is a heterogeneous group of disorders that are characterized by abnormally small cerebellum and brainstem. Autosomal recessive inheritance has been implied in many cases, but no genetic loci have been mapped to date. Methods: The authors studied a consanguineous family from the Sultanate of Oman with three siblings with a novel form of PCH. The authors performed clinical studies and linkage analysis of this pedigree. Results: The clinical features of the affected children include developmental delay, progressive microcephaly with brachycephaly, seizures during the first year of life, hypotonia with hyperreflexia, short stature, and optic atrophy. Imaging studies showed a small pons and cerebellum, prominent sulci and lateral ventricles, and decreased cerebral white matter volume. A lack of dyskinesias distinguishes this pedigree from PCH type 2. Genetic studies of this family revealed evidence of significant linkage to chromosome 7q11-21 (maximum multipoint lod score 3.23). Conclusions: This pedigree represents a novel form of autosomal recessive PCH, which the authors propose to call cerebellar atrophy with progressive microcephaly (CLAM). This disorder maps to chromosome 7q11-21, and this locus was named CLAM. This report represents the first identification of a genetic locus for PCH.

AB - Objective: To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus. Background: PCH is a heterogeneous group of disorders that are characterized by abnormally small cerebellum and brainstem. Autosomal recessive inheritance has been implied in many cases, but no genetic loci have been mapped to date. Methods: The authors studied a consanguineous family from the Sultanate of Oman with three siblings with a novel form of PCH. The authors performed clinical studies and linkage analysis of this pedigree. Results: The clinical features of the affected children include developmental delay, progressive microcephaly with brachycephaly, seizures during the first year of life, hypotonia with hyperreflexia, short stature, and optic atrophy. Imaging studies showed a small pons and cerebellum, prominent sulci and lateral ventricles, and decreased cerebral white matter volume. A lack of dyskinesias distinguishes this pedigree from PCH type 2. Genetic studies of this family revealed evidence of significant linkage to chromosome 7q11-21 (maximum multipoint lod score 3.23). Conclusions: This pedigree represents a novel form of autosomal recessive PCH, which the authors propose to call cerebellar atrophy with progressive microcephaly (CLAM). This disorder maps to chromosome 7q11-21, and this locus was named CLAM. This report represents the first identification of a genetic locus for PCH.

UR - http://www.scopus.com/inward/record.url?scp=0038137184&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0038137184&partnerID=8YFLogxK

M3 - Article

C2 - 12771259

AN - SCOPUS:0038137184

VL - 60

SP - 1664

EP - 1667

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 10

ER -