Homozygous deletion ofTRMT10Aas part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus

Abstract Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2. PTLS is characterized by hypotonia, failure to thrive, congenital anomalies (particularly of the cardiovascular system), intellectual disability, and behavioural disturbances. The patient was a full-term baby girl, 2,750 grams at birth, delivered via an uncomplicated vaginal delivery with pronounced hypotonia at birth. Nevertheless, there was failure to thrive (weight 7.6 kg; 2.8 SD). Micrognathia, epicanthal skin folds, and megalocornea were noticeable. There was a harsh continuous systolic murmur, and the ultrasound of the heart revealed a persistent arteriosus duct which was surgically closed. At the age of 18 months, the girl could not sit without support, and she could not utter simple words. The girl is often moody, angry, and aggressive. She is hyperactive and unable to establish contacts with family members. A 17p12-p11.2 microduplication was identified via MLPA. Muscle hypotonia, congenital heart malformation, failure to thrive, developmental delay, behavioural disturbances (or autism spectrum disorder), and intellectual disability are early signs of PTLS. The presence of PTLS was proven by an MLPA analysis.

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Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

Molecular Cytogenetics ◽

10.1186/s13039-016-0299-8 ◽

2016 ◽

Vol 9 (1) ◽

Cited By ~ 3

Author(s):

Daniela Strunk ◽

Peter Weber ◽

Benno Röthlisberger ◽

Isabel Filges

Keyword(s):

Intellectual Disability ◽

Gene Deletion ◽

Deletion Syndrome ◽

Contiguous Gene ◽

Contiguous Gene Deletion Syndrome

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Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.36569 ◽

2014 ◽

Vol 164 (8) ◽

pp. 2062-2068 ◽

Cited By ~ 4

Author(s):

Andrea H. Seeley ◽

Mark A. Durham ◽

Mark A. Micale ◽

Jeffrey Wesolowski ◽

Bradley R. Foerster ◽

...

Keyword(s):

Intellectual Disability ◽

Gene Deletion ◽

Contiguous Gene

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The Largest Germline Heterozygous Deletion Encompassing Potocki–Shaffer and WAGR Syndromes Loci to Date: A Case Report

Neuropediatrics ◽

10.1055/s-0041-1740357 ◽

2021 ◽

Author(s):

Geoffroy Delplancq ◽

Mohamed Abdelatif Boukebir ◽

Daniel Amsallem ◽

Laurent Thines ◽

Virginie Rozé ◽

...

Keyword(s):

Case Report ◽

Intellectual Disability ◽

High Resolution ◽

Array Comparative Genomic Hybridization ◽

Gene Deletion ◽

Comparative Genomic ◽

Prenatal Period ◽

Heterozygous Deletion ◽

Multiple Exostoses ◽

Contiguous Gene

AbstractPotocki–Schaffer syndrome includes multiple exostoses, parietal foramina, and variable developmental delay/intellectual disability. It is associated with a heterozygous deletion of the 11p12p11.2 region. In some cases, the deletion extends to the WAGR locus (11p13p12). We describe here a 9-month-old girl harboring the largest germline heterozygous deletion characterized so far. Oligohydramnios and parietal foramina were noticed during pregnancy. No patient has been diagnosed before with concomitance of these two syndromes during the prenatal period. Cytogenetic diagnosis was anticipated on basis of clinical and radiological signs. Postnatal conventional karyotype confirmed an interstitial 11p deletion: 46,XX,del(11)(p11.2p15.1). Array-comparative genomic hybridization characterized a 29.6 Mb deletion. Our case illustrates the interest of high-resolution genomic approaches to correlate adequately clinical phenotypes with specific genes in suspected contiguous gene deletion syndromes.

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CHRONIC GRANULOMATOUS DISEASE, THE MCLEOD NEUROACANTHOCYTOSIS SYNDROME AND THE CONTIGUOUS GENE DELETION SYNDROME. CASE REPORT

10.26226/morressier.57bc1758d462b80290b4d387 ◽

2016 ◽

Author(s):

Jose Antonio Galian Megias

Keyword(s):

Case Report ◽

Chronic Granulomatous Disease ◽

Gene Deletion ◽

Deletion Syndrome ◽

Granulomatous Disease ◽

Contiguous Gene ◽

Contiguous Gene Deletion Syndrome

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Wolman’s disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review

BMC Pediatrics ◽

10.1186/s12887-021-02541-2 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Fahad Alabbas ◽

Ghaleb Elyamany ◽

Talal Alanzi ◽

Tahani Bin Ali ◽

Fatma Albatniji ◽

...

Keyword(s):

Hemophagocytic Lymphohistiocytosis ◽

Metabolic Disorder ◽

Clinical Signs ◽

Failure To Thrive ◽

Severe Infection ◽

Signs And Symptoms ◽

Immune Deficiency Syndrome ◽

Autoimmune Disorder ◽

Deficiency Syndrome ◽

Homozygous Deletion

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome that is characterized by strong activation of the immune system from hyperinflammatory cytokines. Symptoms of HLH patients include fever, hepatosplenomegaly, cytopenia, and hyperferritinemia. Inherited HLH is classified as primary, whereas secondary HLH (sHLH) occurs when acquired from non-inherited reasons that include severe infection, immune deficiency syndrome, autoimmune disorder, neoplasm, and metabolic disorder. Wolman’s disease (WD) is a rare and fatal infantile metabolic disorder caused by lysosomal acid lipase deficiency, that exhibits similar clinical signs and symptoms as HLH. This paper reports the case of an infant diagnosed with WD and who presented with sHLH. Case presentation A 4-month-old infant presenting with hepatosplenomegaly, failure to thrive, and other abnormalities. WD diagnosis was confirmed by the presence of the LIPA gene homozygous deletion c.(428 + 1_967-1)_(*1_?)del. The infant also met the HLH-2004 diagnostic criteria. Conclusions Metabolic disorder such as WD should be investigated in infants fulfilling the HLH criteria to diagnose the underlying condition. More studies are needed to understand the link between WD and sHLH and to identify appropriate therapies.

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