This condition is caused by mutations in the SRY-related HMG-box (SOX5) gene.[3] This gene encodes a protein in the family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate.
The gene is located on the short arm of chromosome 12 (12p12).
A study published in 2019 examining 34 families shows that 74% (25/34 families) of the condition are likely to be of de novo occurrence as the variants could not be detected in parental blood samples. In 15% (5/34 families) of the patients the condition was likely inherited from a mosaic parent. In 3% (1/34), the condition was inherited from an affected parent.[4] This means that the majority of the patients have parents who are unaffected whereas inheritance is also possible.
Pathogenesisedit
How this mutation causes the clinical picture is not currently clear.[citation needed]
Diagnosisedit
The diagnosis may be suspected on the basis of the constellation of clinical features but may only be determined by a genetic test. The full exome sequencing test is used to determine the partial deletion, deletion,or mutation to the SOX5 gene. It is made by sequencing the SOX5 gene responsible for the cells that facilitate information transferring in the brain. Symptoms of Lamb-Shaffer syndrome include fine and gross motor delays, speech delay, global developmental delay,hypotonia and issues with vision, commonly misdiagnosed for autism.
Treatmentedit
There is currently no curative treatment for this condition. Supportive management is all that is currently available.
Epidemiologyedit
This is a rare condition with a prevalence of < 1/106. The total number of cases reported to date is <550. [5]
Historyedit
This condition was first described by Lamb et al in 2012[6]
Referencesedit
^Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S., Keelean-Fuller D, Fan Z, Pouncey J, Stevens, C., Mackay-Loder L, Terespolsky D, and 31 others. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat 33: 728-740
^Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A (2015) Exome sequencing expands the mechanism of SOX5-associated intellectual disability: a case presentation with review of SOX-related disorders. Am J Med Genet 167A: 2548-2554
^Lee RWY, Bodurtha J, Cohen J, Fatemi A, Batista D (2013) Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. Pediat Neurol 48: 317-320
^Ash, Zawerton (3 October 2019). "Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency". Genetics in Medicine: 3 – via Researchgate.net.
^Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S., Keelean-Fuller D, Fan Z, Pouncey J, Stevens, C., Mackay-Loder L, Terespolsky D, and 31 others. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat 33: 728-740
April 18, 2024
lamb, shaffer, syndrome, this, article, relies, excessively, references, primary, sources, please, improve, this, article, adding, secondary, tertiary, sources, find, sources, news, newspapers, books, scholar, jstor, september, 2018, learn, when, remove, this,. This article relies excessively on references to primary sources Please improve this article by adding secondary or tertiary sources Find sources Lamb Shaffer syndrome news newspapers books scholar JSTOR September 2018 Learn how and when to remove this template message Lamb Shaffer syndrome is a rare autosomal dominant condition 1 Less than 40 cases have been reported by 2018 Lamb Shaffer syndromeAutosomal dominant pattern is the inheritance manner of this conditionSpecialtyMedical genetics Contents 1 Signs and symptoms 2 Genetics 3 Pathogenesis 4 Diagnosis 5 Treatment 6 Epidemiology 7 History 8 ReferencesSigns and symptoms editClinical features include 2 Global developmental delay Significant speech delay Hypotonia Micrognathia Scoliosis Defects in motor function both fine and gross Optic atrophy Ocular motor apraxia Strabismus Frontal bossing Ear abnormalities Low nasal bridge Epicanthal folds Midline tongue grooveGenetics editThis condition is caused by mutations in the SRY related HMG box SOX5 gene 3 This gene encodes a protein in the family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate The gene is located on the short arm of chromosome 12 12p12 A study published in 2019 examining 34 families shows that 74 25 34 families of the condition are likely to be of de novo occurrence as the variants could not be detected in parental blood samples In 15 5 34 families of the patients the condition was likely inherited from a mosaic parent In 3 1 34 the condition was inherited from an affected parent 4 This means that the majority of the patients have parents who are unaffected whereas inheritance is also possible Pathogenesis editHow this mutation causes the clinical picture is not currently clear citation needed Diagnosis editThe diagnosis may be suspected on the basis of the constellation of clinical features but may only be determined by a genetic test The full exome sequencing test is used to determine the partial deletion deletion or mutation to the SOX5 gene It is made by sequencing the SOX5 gene responsible for the cells that facilitate information transferring in the brain Symptoms of Lamb Shaffer syndrome include fine and gross motor delays speech delay global developmental delay hypotonia and issues with vision commonly misdiagnosed for autism Treatment editThere is currently no curative treatment for this condition Supportive management is all that is currently available Epidemiology editThis is a rare condition with a prevalence of lt 1 106 The total number of cases reported to date is lt 550 5 History editThis condition was first described by Lamb et al in 2012 6 References edit Lamb AN Rosenfeld JA Neill NJ Talkowski ME Blumenthal I Girirajan S Keelean Fuller D Fan Z Pouncey J Stevens C Mackay Loder L Terespolsky D and 31 others Haploinsufficiency of SOX5 at 12p12 1 is associated with developmental delays with prominent language delay behavior problems and mild dysmorphic features Hum Mutat 33 728 740 Nesbitt A Bhoj EJ McDonald Gibson K Yu Z Denenberg E Sarmady M Tischler T Cao K Dubbs H Zackai EH Santani A 2015 Exome sequencing expands the mechanism of SOX5 associated intellectual disability a case presentation with review of SOX related disorders Am J Med Genet 167A 2548 2554 Lee RWY Bodurtha J Cohen J Fatemi A Batista D 2013 Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features Pediat Neurol 48 317 320 Ash Zawerton 3 October 2019 Widening of the genetic and clinical spectrum of Lamb Shaffer syndrome a neurodevelopmental disorder due to SOX5 haploinsufficiency Genetics in Medicine 3 via Researchgate net http www lambshaffer org Lamb AN Rosenfeld JA Neill NJ Talkowski ME Blumenthal I Girirajan S Keelean Fuller D Fan Z Pouncey J Stevens C Mackay Loder L Terespolsky D and 31 others Haploinsufficiency of SOX5 at 12p12 1 is associated with developmental delays with prominent language delay behavior problems and mild dysmorphic features Hum Mutat 33 728 740 Retrieved from https en wikipedia org w index php title Lamb Shaffer syndrome amp oldid 1181691397, wikipedia, wiki, book, books, library,
