Phenotypic differences in African Americans with Prader-Willi syndrome

Hudgins, Louanne; Geer, Joseph S.; Cassidy, Suzanne B.

doi:10.1097/00125817-199811000-00010

Cited by 18 publications

(15 citation statements)

References 7 publications

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“…Atypical presentation of the clinical features of PWS in African–Americans has been reported. For instance, in the 10 African–American PWS patients assessed by Hudgins et al , growth was less affected, hand and foot lengths were usually normal and facies were atypical in comparison with PWS Caucasian patients . This phenotypic difference between Caucasian and African–American populations can result in the under‐diagnosis of PWS in African–Americans .…”

Section: Resultsmentioning

confidence: 99%

“…For instance, in the 10 African–American PWS patients assessed by Hudgins et al , growth was less affected, hand and foot lengths were usually normal and facies were atypical in comparison with PWS Caucasian patients . This phenotypic difference between Caucasian and African–American populations can result in the under‐diagnosis of PWS in African–Americans . Butler et al suggested that this under‐reporting can be due to the less characteristic appearance and absence of acromicria .…”

Section: Resultsmentioning

confidence: 99%

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A systematic review of genetic syndromes with obesity

et al. 2017

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Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and involves the co-presentation of other characteristics, such as mental retardation, dysmorphic features and organ-specific abnormalities. Previous reviews on obesity have reported 20 to 30 syndromes but no systematic review has yet been conducted on syndromic obesity. We searched seven databases using terms such as 'obesity', 'syndrome' and 'gene' to conduct a systematic review of literature on syndromic obesity. Our literature search identified 13,719 references. After abstract and full-text review, 119 relevant papers were eligible, and 42 papers were identified through additional searches. Our analysis of these 161 papers found that 79 obesity syndromes have been reported in literature. Of the 79 syndromes, 19 have been fully genetically elucidated, 11 have been partially elucidated, 27 have been mapped to a chromosomal region and for the remaining 22, neither the gene(s) nor the chromosomal location(s) have yet been identified. Interestingly, 54.4% of the syndromes have not been assigned a name, whereas 13.9% have more than one name. We report on organizational inconsistencies (e.g. naming discrepancies and syndrome classification) and provide suggestions for improvements. Overall, this review illustrates the need for increased clinical and genetic research on syndromes with obesity.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

A systematic review of genetic syndromes with obesity

et al. 2017

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“…The paucity of dysmorphic features among African‐American patients has been noted in other syndromic diagnoses. Hudgins et al [1998] reported that the typical facial characteristics in African‐American patients with Prader–Willi syndrome were lacking and suggested that the “clinicians threshold of suspicion of Prader–Willi syndrome should be lower in African‐American individuals with hypotonia and developmental delays.”…”

Section: Discussionmentioning

confidence: 99%

The 22q11.2 deletion in African‐American patients: An underdiagnosed population?

McDonald‐McGinn

Minugh-Purvis

Kirschner

et al. 2005

American J of Med Genetics Pt A

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Findings associated with the 22q11.2 deletion often include congenital heart malformations, palatal anomalies, immunodeficiency, hypocalcemia, and developmental delay or learning disabilities. Often the clinical suspicion of the diagnosis in a patient with one or more of these findings is heightened based on the presence of a characteristic facial appearance. In our large cohort of 370 patients with the 22q11.2 deletion, we report the under-representation of African-Americans in our group, as well as, the paucity of craniofacial dysmorphism in these patients. We note that the absence of the typical facial features may result in decreased ascertainment in this population and, furthermore, may delay the implementation of palliative care, cognitive remediation, and recurrence risk counseling. We, therefore, suggest that the clinician's threshold of suspicion should be lower in African-American patients.

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“…2b and c). In retrospect, some of the apparently atypical features of PWS-29, such as the less-typical facies, may be ascribed to the clinical differences found in African American patients with PWS (Hudgins et al 1998). Whereas one of the affected PWS-T sibs had most of the clinical diagnostic features of PWS, his younger brother, at age 7 years, only had infantile hypotonia, language delay, and above-average weight, without hyperphagia (Teshima et al 1996).…”

Section: Clinical Analysis Of Patients With An Immentioning

confidence: 97%

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

Ohta

Gray

Rogan

et al. 1999

The American Journal of Human Genetics

250

189

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Microdeletions of a region termed the "imprinting center" (IC) in chromosome 15q11-q13 have been identified in several families with Prader-Willi syndrome (PWS) or Angelman syndrome who show epigenetic inheritance for this region that is consistent with a mutation in the imprinting process. The IC controls resetting of parental imprints in 15q11-q13 during gametogenesis. We have identified a larger series of cases of familial PWS, including one case with a deletion of only 7.5 kb, that narrows the PWS critical region to <4. 3 kb spanning the SNRPN gene CpG island and exon 1. Identification of a strong DNase I hypersensitive site, specific for the paternal allele, and six evolutionarily conserved (human-mouse) sequences that are potential transcription-factor binding sites is consistent with this region defining the SNRPN gene promoter. These findings suggest that promoter elements at SNRPN play a key role in the initiation of imprint switching during spermatogenesis. We also identified three patients with sporadic PWS who have an imprinting mutation (IM) and no detectable mutation in the IC. An inherited 15q11-q13 mutation or a trans-factor gene mutation are unlikely; thus, the disease in these patients may arise from a developmental or stochastic failure to switch the maternal-to-paternal imprint during parental spermatogenesis. These studies allow a better understanding of a novel mechanism of human disease, since the epigenetic effect of an IM in the parental germ line determines the phenotypic effect in the patient.

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Phenotypic differences in African Americans with Prader-Willi syndrome

Cited by 18 publications

References 7 publications

A systematic review of genetic syndromes with obesity

A systematic review of genetic syndromes with obesity

The 22q11.2 deletion in African‐American patients: An underdiagnosed population?

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

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