Nonspecific X‐linked mental retardation with macrocephaly and obesity: A further family

Baraitser, M; Vijeratnam, S.

doi:10.1002/ajmg.1320570303

Cited by 14 publications

(6 citation statements)

References 8 publications

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“…Our patients could be distinguished from those in the study by Atkin et al, on the basis of absence of macrocephaly, hypertelorism, short stature, broad and short hands, diastema, and microdontia, all of which are features seen in Atkin et al's report (table 3). Clark and Baraitser (1987) described XLMR with macrocephaly, obesity, and macroorchidism, and, thereafter, additional cases were reported elsewhere (Baraitser et al 1995;de Pina-Neto and de Molfetta 1998). The clinical features of this condition, which are listed in table 3, are quite distinct from those of the patients in the present study, although there are some similarities.…”

Section: Figuresupporting

confidence: 52%

A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27

Shashi

Berry

Shoaf

et al. 2000

The American Journal of Human Genetics

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We report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and large testicles. Cephalometric measurements suggest that the affected males have a distinctive craniofacial skeletal structure, when compared with normative measures. Obligate-carrier females are unaffected with MR, but the results of cephalometric skeletal analysis suggest craniofacial dysmorphisms intermediate between affected males and normative control individuals. Unaffected male relatives show no clinical or cephalometric resemblance to affected males. The blood-lymphocyte karyotype and the results of DNA analysis for fragile-X syndrome and of other routine investigations are normal. Linkage analysis for polymorphic DNA markers spanning the X chromosome established linkage to Xq26-q27. Maximum LOD scores were obtained at marker DXS1047 (maximum LOD score = 3.1 at recombination fraction 0). By use of haplotype analysis, we have localized the gene for this condition to an 18-cM genetic interval flanked by ATA59C05 and GATA31E08. On the basis of both the clinical phenotype and the mapping data, we were able to exclude other reported XLMR conditions. Therefore, we believe that a unique recessive XLMR syndrome with a distinctive and recognizable phenotype is represented in this family.

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Section: Figuresupporting

confidence: 52%

A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27

Shashi

Berry

Shoaf

et al. 2000

The American Journal of Human Genetics

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“…Common findings are MR, macrocephaly, large ears, periorbital fullness, and full lower lip. Clark and Baraitser [1987] and Baraitser et al [1995] described similar patients who differed from those described by Atkin in that the former have tall stature and no hypertelorism. However, linkage studies have not been performed in these families, therefore it is inconclusive whether these are separate forms of XLMR.…”

Section: Discussionmentioning

confidence: 50%

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

Hamel¹,

Smits²,

Helm³

et al. 1999

Am. J. Med. Genet.

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Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at straight theta = 0.0 in all four families.

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“…Several X‐linked conditions with obesity and MR share some phenotypic similarities as indicated in Table 2. These are Börjeson–Forssman–Lehmann (BFLS) (83), Shasi (84, 85), Wilson–Turner (86), Ahmad (87), Atkin–Flaitz (88), and Clark–Baraister (89–91) syndromes as well as a variant of the Fragile X syndrome (92, 93). As BFLS and Shasi syndromes map to the same chromosomal region, the possibility that they represent allelic conditions is not excluded.…”

Section: X‐linked Conditionsmentioning

confidence: 99%

Fat chance: genetic syndromes with obesity

2004

Clinical Genetics

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Although obesity shows high heritability, we are aware of only a small number of genes that affect adipose mass in humans. Genetic syndromes with obesity represent unique opportunities to gain insight into the control of energy balance. The majority of obesity syndromes can be distinguished by the presence of mental retardation. We performed a systematic search of such syndromes and reviewed the literature with a focus on distinguishing clinical features, the characteristics of their obesity, and the underlying pathogenetic mechanisms. We predict that the study of these conditions will shed light on common forms of obesity.

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Nonspecific X‐linked mental retardation with macrocephaly and obesity: A further family

Cited by 14 publications

References 8 publications

A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27

A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

Fat chance: genetic syndromes with obesity

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