The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton-Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole MottonAlexandra Murray, Katie Riches, Deborah Shears, Zornitza Stark, Elizabeth Thompson, Julie Vogt, Michael Wright, Trevor Cole, Katrina Tatton-Brown

Research output: Contribution to journalArticle

Abstract

Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17 years since disruption of NSD1 was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 SD and men +0.5 SD. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals.

Original languageEnglish
Number of pages7
JournalAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
Early online date3 Sep 2019
DOIs
Publication statusE-pub ahead of print - 3 Sep 2019

Fingerprint

Sotos Syndrome
Phenotype
Intellectual Disability
Megalencephaly
Chin
Aptitude
Dentition
Lymphedema
Scoliosis
Contracture
Tremor
Hearing Loss
Seizures
Kidney

Keywords

  • Sotos syndrome
  • adult phenotype
  • overgrowth-intellectual disability syndrome

Cite this

Foster, Alison ; Zachariou, Anna ; Loveday, Chey ; Ashraf, Tazeen ; Blair, Edward ; Clayton-Smith, Jill ; Dorkins, Huw ; Fryer, Alan ; Gener, Blanca ; Goudie, David ; Henderson, Alex ; Irving, Melita ; Joss, Shelagh ; Keeley, Vaughan ; Lahiri, Nayana ; Lynch, Sally Ann ; Mansour, Sahar ; McCann, Emma ; Morton, Jenny ; Motton, Nicole ; Murray, Alexandra ; Riches, Katie ; Shears, Deborah ; Stark, Zornitza ; Thompson, Elizabeth ; Vogt, Julie ; Wright, Michael ; Cole, Trevor ; Tatton-Brown, Katrina. / The phenotype of Sotos syndrome in adulthood : A review of 44 individuals. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2019.
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abstract = "Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17 years since disruption of NSD1 was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 SD and men +0.5 SD. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals.",
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author = "Alison Foster and Anna Zachariou and Chey Loveday and Tazeen Ashraf and Edward Blair and Jill Clayton-Smith and Huw Dorkins and Alan Fryer and Blanca Gener and David Goudie and Alex Henderson and Melita Irving and Shelagh Joss and Vaughan Keeley and Nayana Lahiri and Lynch, {Sally Ann} and Sahar Mansour and Emma McCann and Jenny Morton and Nicole Motton and Alexandra Murray and Katie Riches and Deborah Shears and Zornitza Stark and Elizabeth Thompson and Julie Vogt and Michael Wright and Trevor Cole and Katrina Tatton-Brown",
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Foster, A, Zachariou, A, Loveday, C, Ashraf, T, Blair, E, Clayton-Smith, J, Dorkins, H, Fryer, A, Gener, B, Goudie, D, Henderson, A, Irving, M, Joss, S, Keeley, V, Lahiri, N, Lynch, SA, Mansour, S, McCann, E, Morton, J, Motton, N, Murray, A, Riches, K, Shears, D, Stark, Z, Thompson, E, Vogt, J, Wright, M, Cole, T & Tatton-Brown, K 2019, 'The phenotype of Sotos syndrome in adulthood: A review of 44 individuals', American Journal of Medical Genetics Part C: Seminars in Medical Genetics. https://doi.org/10.1002/ajmg.c.31738

The phenotype of Sotos syndrome in adulthood : A review of 44 individuals. / Foster, Alison; Zachariou, Anna; Loveday, Chey; Ashraf, Tazeen; Blair, Edward; Clayton-Smith, Jill; Dorkins, Huw; Fryer, Alan; Gener, Blanca; Goudie, David; Henderson, Alex; Irving, Melita; Joss, Shelagh; Keeley, Vaughan; Lahiri, Nayana; Lynch, Sally Ann; Mansour, Sahar; McCann, Emma; Morton, Jenny; Motton, Nicole; Murray, Alexandra; Riches, Katie; Shears, Deborah; Stark, Zornitza; Thompson, Elizabeth; Vogt, Julie; Wright, Michael; Cole, Trevor; Tatton-Brown, Katrina (Lead / Corresponding author).

In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 03.09.2019.

Research output: Contribution to journalArticle

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T1 - The phenotype of Sotos syndrome in adulthood

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AU - Foster, Alison

AU - Zachariou, Anna

AU - Loveday, Chey

AU - Ashraf, Tazeen

AU - Blair, Edward

AU - Clayton-Smith, Jill

AU - Dorkins, Huw

AU - Fryer, Alan

AU - Gener, Blanca

AU - Goudie, David

AU - Henderson, Alex

AU - Irving, Melita

AU - Joss, Shelagh

AU - Keeley, Vaughan

AU - Lahiri, Nayana

AU - Lynch, Sally Ann

AU - Mansour, Sahar

AU - McCann, Emma

AU - Morton, Jenny

AU - Motton, Nicole

AU - Murray, Alexandra

AU - Riches, Katie

AU - Shears, Deborah

AU - Stark, Zornitza

AU - Thompson, Elizabeth

AU - Vogt, Julie

AU - Wright, Michael

AU - Cole, Trevor

AU - Tatton-Brown, Katrina

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PY - 2019/9/3

Y1 - 2019/9/3

N2 - Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17 years since disruption of NSD1 was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 SD and men +0.5 SD. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals.

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