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Review
. 2015 Sep;4(3):159-67.
doi: 10.1055/s-0035-1564443. Epub 2015 Sep 28.

V体育ios版 - Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes

Juanita Neira-Fresneda  1 , Lorraine Potocki  2
Affiliations
Review

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes (V体育官网入口)

Juanita Neira-Fresneda et al. J Pediatr Genet. 2015 Sep.

V体育安卓版 - Abstract

Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are reciprocal contiguous gene syndromes within the well-characterized 17p11. 2 region VSports手机版. Approximately 3. 6 Mb microduplication of 17p11. 2, known as PTLS, represents the mechanistically predicted homologous recombination reciprocal of the SMS microdeletion, both resulting in multiple congenital anomalies. Mouse model studies have revealed that the retinoic acid-inducible 1 gene (RAI1) within the SMS and PTLS critical genomic interval is the dosage-sensitive gene responsible for the major phenotypic features in these disorders. Even though PTLS and SMS share the same genomic region, clinical manifestations and behavioral issues are distinct and in fact some mirror traits may be on opposite ends of a given phenotypic spectrum. We describe the neurobehavioral phenotypes of SMS and PTLS patients during different life phases as well as clinical guidelines for diagnosis and a multidisciplinary approach once diagnosis is confirmed by array comparative genomic hybridization or RAI1 gene sequencing. The main goal is to increase awareness of these rare disorders because an earlier diagnosis will lead to more timely developmental intervention and medical management which will improve clinical outcome. .

Keywords: autism; congenital heart disease; gene dosage; intellectual disability; mirror traits V体育安卓版. .

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Figures

Fig. 1
Fig. 1
Facial features of Smith–Magenis syndrome (SMS) (A–H) and Potocki–Lupski syndrome (PTLS) (I–P). Common facial features of SMS include frontal prominence, synophrys, malar hypoplasia, and prognathia (more pronounced with age). Female with SMS (Patient number BAB 468), ages 7 months (A), 2 years (B), 9 years (C), 21 years (D). Male with SMS, ages 23 months (E), 3 years (F), 12 years (G), 17 years (H). Facial features more common in PTLS include inverted triangle shape, down slanting palpebral fissures, and relatively small jaw. Female with PTLS (Patient number BAB 1006), ages 8 months (I), 3 years (J), 10 years (K), 28 years (L). Male with PTLS (Patient number BAB 1690), ages 6 months (M), 6 years (N), 10 years (O), 19 years (P).
Fig. 2
Fig. 2
Neurodevelopmental aspects of Smith–Magenis syndrome. A schematic representation of the trends of key neurodevelopmental features of SMS across age groups. Cognitive impairment, maladaptive and stereotypic behaviors, and sleep disturbances are observed in all patients with SMS; however, autism spectrum disorder can be variable.
Fig. 3
Fig. 3
Neurodevelopmental aspects of Potocki–Lupski syndrome. A schematic representation of the trends of key neurodevelopmental features of PTLS across age groups. Cognitive impairment and atypia are observed in the majority of patients; however, more data are required (shaded area) to determine the prevalence of these features and of autism spectrum disorder in adolescents and adults with dup17p11.2.
See this image and copyright information in PMC

References

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