Bardet-Biedl Syndrome

Suspitsin, Evgeny N.; Imyanitov, Evgeny N.

doi:10.1159/000445491

Cited by 110 publications

(133 citation statements)

References 106 publications

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“…[3][4][5] The presence of PUGS along with digit anomalies, retinitis pigmentosa, obesity, learning disabilities and male hypogenitalism are phenotypical characteristics of Bardet-Biedl syndrome. 6 In addition, PUGS may also be seen in handfoot-genital syndrome, in which affected males have hypospadias and females have both Müllerian and limb abnormalities. 7 …”

Section: ‫عن‬ ‫حالة‬ ‫ثقرير‬ ‫هذا‬ ‫اجلنيني‬ ‫التطور‬ ‫خالل‬ ‫للف�صلmentioning

confidence: 99%

A Case of Persistent Urogenital Sinus: Pitfalls and challenges in diagnosis

Tan

Shunmugan

et al. 2018

Sultan Qaboos Univ Med J

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Persistent urogenital sinus (PUGS) is a rare anomaly whereby the urinary and genital tracts fail to separate during embryonic development. We report a three-year-old female child who was referred to the Sabah Women & Children Hospital, Sabah, Malaysia, in 2016 with a pelvic mass. She had been born prematurely at 36 gestational weeks via spontaneous vaginal delivery in 2013 and initially misdiagnosed with neurogenic bladder dysfunction. The external genitalia appeared normal and an initial sonogram and repeat micturating cystourethrograms did not indicate any urogenital anomalies. She therefore underwent clean intermittent catheterisation. Three years later, the diagnosis was corrected following the investigation of a persistent cystic mass posterior to the bladder. At this time, a clinical examination of the perineum showed a single opening into the introitus. Magnetic resonance imaging of the pelvis revealed gross hydrocolpos and a genitogram confirmed a diagnosis of PUGS, for which the patient underwent surgical separation of the urinary and genital tracts.

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Section: ‫عن‬ ‫حالة‬ ‫ثقرير‬ ‫هذا‬ ‫اجلنيني‬ ‫التطور‬ ‫خالل‬ ‫للف�صلmentioning

confidence: 99%

A Case of Persistent Urogenital Sinus: Pitfalls and challenges in diagnosis

Tan

Shunmugan

et al. 2018

Sultan Qaboos Univ Med J

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“…It is a rare autosomal recessive genetic disorder with severe multiorgan impairment [74]. Its frequency in Europe and North America falls below 1:100,000 [75].…”

Section: Developmental Obesity Syndromes Involving Ciliary Dysfunctionmentioning

confidence: 99%

“…Its frequency in Europe and North America falls below 1:100,000 [75]. The disease symptoms may significantly vary between the patients; therefore, the diagnosis relies on the number of primary and secondary features of BBS [74]. Multiple articles summarize the data on frequencies of various symptoms in BBS patients [75,76].…”

Section: Developmental Obesity Syndromes Involving Ciliary Dysfunctionmentioning

confidence: 99%

“…Many individuals with BBS look virtually healthy at birth unless they were born with a polydactyly. Other symptoms of BBS tend to gradually emerge during or after the first decade of life; thus, patients diagnosed at early childhood tend to have fewer clinical features of the disease [74]. There are six primary features of BBS, that is, rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties.…”

Section: Developmental Obesity Syndromes Involving Ciliary Dysfunctionmentioning

confidence: 99%

“…Genetic diagnosis of BBS is complicated due to lack of gene-specific disease symptoms; however, it is gradually becoming more accessible with the invention of multigene sequencing technologies [74].…”

Section: Developmental Obesity Syndromes Involving Ciliary Dysfunctionmentioning

confidence: 99%

See 2 more Smart Citations

New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

Stagi¹,

Bianconi²,

Sammarco³

et al. 2017

Adiposity - Omics and Molecular Understanding

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Historically, some genetic syndromes and monogenic forms of obesity have been identified by clinical features and by sequencing candidate genes in patients with severe obesity. The phenotypic expression of genetic factors involved in obesity is variable, thereby allowing to distinguish several clinical pictures of obesity. Monogenic obesity is described as rare and severe early-onset obesity with abnormal feeding behavior and endocrine disorders. Many of the findings emerged from studying families who displayed a classical Mendelian pattern of inheritance. On the contrary, patients with syndromic obesity show a various degree of intellectual disability, different dysmorphic features, and organ-specific abnormalities. But to date, not all involved genes have been identified so far. New diagnostic tools, such as genome-wide studies, array CGH, and whole-exome sequencing, have highlighted more complex models of inheritance, and even more candidate genes were identified. This increase of knowledge may provide insights into the mechanisms involved in the regulation of body weight and finally lead to specific treatments. In these patients, hyperphagia is often a primary phenotypic component. Substantial gaps in understanding the molecular basis of inherited hyperphagia syndromes are present today with a lack of mechanistic targets that can serve as a basis for pharmacologic and behavioral treatments. We have evaluated retrospectively the literature data on weight, body mass index (BMI), clinical features, treatments, and treatment response in pediatric patients with forms of genetic obesity. However, this chapter provides an updated picture of emerging knowledge outlined by the more comprehensive genetic approaches, trying to outline more candidate genes for these forms of genetic obesity. Relevant papers will be identified through systematic searches of the PubMed, EMBASE and Cochrane databases. All published studies in the English language concerning these disorders will be evaluated. Keywords in the

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Chromosome 15

Farra

2017

Encyclopedia of Life Sciences

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Human chromosome 15 is an acrocentric chromosome that represents approximately 3% of the genetic material in the human genome. Although it remains comparatively gene‐poor, chromosome 15 contains a ribosomal ribonucleic acid (rRNA) gene cluster and a number of imprinted genes. Over 900 genes were mapped to chromosome 15, some of which have been traced to various diseases including Prader–Willi syndrome (PWS), Angelman syndrome (AS) and many others. Robertsonian translocations are common cytogenetic aberrations that occur between nonhomologous acrocentric chromosomes at a frequency of 1 in 1000 live births. Robertsonian translocations that are involved with chromosome 15 represent an important cause of uniparental disomy, and thus are mechanistic in causing PWS and AS, which are disorders manifesting neurological, developmenmtal and behavioural phenotypes. A variety of non‐Robertsonian translocations have been reported to involve chromosome 15, among them being t(15;17)(q22;q11–q21), which is specifically associated with acute promyelocytic leukaemia. Key Concepts Human chromosome 15 is an acrocentric estimated to contain approximately 3% of the genetic material of the entire human genome. Chromosome 15 shares substantial sequence similarities in the short arm that encode the tandemly repeated ribosomal ribonucleic acid genes and a series of other tandemly repeated sequence arrays. Chromosome 15 has, due to the localisation in 15q11–q13 of Prader–Willi syndrome (PWS) and Angelman syndrome (AS), has illuminated the role of genomic imprinting in gene expression. The physical size of chromosome 15 has been estimated at 107 Mb with 15p at 17 Mb and 15q at 89 Mb. The euchromatic region of this chromosome has been entirely sequenced, and contains 11 contigs. A total of 301 Yeast artificial chromosomes, 306 bacterial artificial chromosomes, and 6493 sequence‐tagged sites have been identified on chromosome 15. The genetic map length for chromosome 15 is 137 cM in the human female and 99 cM in the human male. Over 900 genes were mapped to chromosome 15, some of which have been traced to the following diseases: Andermann syndrome, AS, Bardet–Biedl syndrome type 4, Bloom syndrome, cardiomyopathy, hepatic lipase deficiency, limb girdle muscular dystrophy, Marfan syndrome, oculocutaneous albinism type 2, PWS, spastic paraplegia type 6 and Tay–Sachs disease. Robertsonian translocations are common cytogenetic aberrations that occur between nonhomologous acrocentric chromosomes at a frequency of 1 in 1000 live births. Robertsonian translocations represent an important cause of uniparental disomy, and thus are mechanistic in causing PWS and AS when chromosome 15 is involved. A variety of non‐Robertsonian translocations have been reported to involve chromosome 15, notably among them being t(15;17)(q22;q11–q21), which is specifically associated with acute promyelocytic leukaemia.

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Bardet-Biedl Syndrome

Cited by 110 publications

References 106 publications

A Case of Persistent Urogenital Sinus: Pitfalls and challenges in diagnosis

A Case of Persistent Urogenital Sinus: Pitfalls and challenges in diagnosis

New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

Chromosome 15

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