MASA syndrome: new clinical features and linkage analysis using DNA probes.

Schrander‐Stumpel, Connie; Legius, Eric; Fryns, Jean‐Pierre; Cassiman, Jean‐Jacques

doi:10.1136/jmg.27.11.688

Cited by 53 publications

(23 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Moreover, Kenwrick [8] reported a family with X-linked spastic paraplegia involving mental retardation and adducted thumb due to the absence of extensor pollicis longus and provided evidence for localisation of the disease gene in the Xq2.8 region. Taken together, these observations raise the question of whether the MASA syndrome, Kenwrick paraplegia and X-linked H-SAS syndrome might represent different phenotypic expressions of various mutations at the same locus, especially as bowed forefingers and clasped thumbs might be present in these conditions [12,13]. In keeping with this, our observation of intrafamilial phenotypic variability in the H-SAS syndrome gives strong support to the view that markedly different clini-…”

Section: Discussionsupporting

confidence: 71%

X-linked hydrocephalus: Clinical heterogeneity at a single gene locus

et al. 1992

View full text Add to dashboard Cite

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 30007) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of corpus callosum and mental retardation. We confirm here the localisation of the mutant gene on Xq (Xq 2.8) by linkage analysis in a 5-generation pedigree (maximum lod score of Z = 4.57 at theta = 0.04 with probe St14 at locus DXS52) and emphasise the phenotypic variability of the disease. Ventricular dilatation in affected males was either severe and diagnosed antenatally or moderate and consistent with a long survival with little or no macrocephaly. Since other X-linked syndromes of mental retardation with spasticity and flexion deformities of the thumbs have previously been shown to map to the Xq 2.8 region as well (e.g. MASA syndrome and spastic paraplegia), the present results raise the question of whether H-SAS syndrome, MASA syndrome and spastic paraplegia with mental retardation might represent different phenotypic expression of various mutations at the same locus.

show abstract

Section: Discussionsupporting

confidence: 71%

X-linked hydrocephalus: Clinical heterogeneity at a single gene locus

et al. 1992

View full text Add to dashboard Cite

show abstract

“…In the family reported by Schrander-Stumpel et al [1990], a male cousin of a MASA syndrome patient had congenital hydrocephalus. McKusick [1990] reports that only one-half of 32 families reported with X-linked hydrocephalus exhibited an association with clasped thumb.…”

Section: Discussionmentioning

confidence: 97%

Clasped‐thumb mental retardation (MASA) syndrome: Confirmation of linkage to Xq28

Macias¹,

Day²,

King

et al. 1992

Am. J. Med. Genet.

View full text Add to dashboard Cite

We describe a 5-generation Hispanic family with 13 males and 1 female affected with MASA syndrome. The proposita, a 17-year-old female, and her affected male relatives shared many of the cognate manifestations--mental retardation (14/14), aphasia or delayed speech (13/13), shuffling gait (8/13), adduction of thumbs (14/14)--as well as scoliosis (2/13) and increased deep tendon reflexes in the lower extremities (10/13). Southern analysis with the polymorphic DNA probes DXS14 (Xp11), DXS72 (Xq21), and F8C (Xq28) confirmed linkage to the Xq28 region with a maximum lod score of 3.01 for this family.

show abstract

“…The seriousness of the disease may vary from severe hydrocephalus and prenatal death (HSAS subtype) to a mild phenotype (MASA syndrome subtype). These variations may even occur in the same family 3 4…”

Section: Introductionmentioning

confidence: 99%

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Vos

Walle

Bos

et al. 2009

Journal of Medical Genetics

View full text Add to dashboard Cite

General rightsIt is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulationsIf you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: http://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. Results 68 different mutations were detected in 73 patients. In patients with three or more clinical characteristics of L1 syndrome, the mutation detection rate was 66% compared with 16% in patients with fewer characteristics. The detection rate was 51% in families with more than one affected relative, and 18% in families with one affected male. A combination of these two factors resulted in an 85% detection rate (OR 10.4, 95% CI 3.6 to 30.1). The type of mutation affects the severity of L1 syndrome. Children with a truncating mutation were more likely to die before the age of 3 than those with a missense mutation (52% vs 8%; p¼0.02).Conclusions We developed a comprehensive mutation detection system with a detection rate of almost 20% in unselected patients and up to 85% in a selected group. Using the patients' clinical characteristics and family history, clinicians can accurately predict the chance of finding a mutation. A genotype-phenotype correlation was confirmed. The occurrence of (maternal) germline mosaicism was proven.

show abstract

MASA syndrome: new clinical features and linkage analysis using DNA probes.

Cited by 53 publications

References 11 publications

X-linked hydrocephalus: Clinical heterogeneity at a single gene locus

X-linked hydrocephalus: Clinical heterogeneity at a single gene locus

Clasped‐thumb mental retardation (MASA) syndrome: Confirmation of linkage to Xq28

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Contact Info

Product

Resources

About