Table 1

Summary of molecular and clinical data in 14 individuals with mutations in FOXP2

Family 1Family 2Family 3Family 4Family 5Family 6Family 7Family 8
Mutation in FOXP2Deletion exons 12-17p.(Arg353*)p.(Arg561Pro)p.(Arg503*)p.(Arg589*)p.(Phe563Leufs*28)p.(Arg503*)p.(Pro530Leu)
Detected in the index bySNP ArraySangerSangerNGS panelTrio exomeTrio exomeNGS panelSanger
Index 1Index 2IndexMotherIndexFatherIndexIndexIndexIndexSisterFatherIndexFather
Age at last investigation11 years11 years14 years35 years10 years 10 monthsnd6 years9 years 11 months19 years6.5 years4.5 years36 years6.5 years40 years
Delayed speech+++nd+++++++++, 2.5 years+
Age of first words4 years4 years4 yearsnd5 yearsnd13 months4.5 years7 years4 years8 months7 years13 monthsnd
Current speech abilitiesShort sentencesShort sentencesSentencesSentencesSignificantly impairedndSentencesOnly two words, unusual vocalisationsNot fluentFive wordsThree-word sentencesSimple sentencesGood vocabulary, incomplete phrasesStill speech therapy
Slurred articulation++++ndndndna+ndnd++nd
Communication aids required+++
Verbal comprehension (formally tested)ImpairedImpairedImpairedndndndLimited auditive memoryImpairedGood (no test)ndndndImpairednd
Walking age18 months18 months14 monthsnd20 monthsnd16 months15 months15 months14 months18 monthsnd13 monthsNormal
Latest IQ (formally tested)787972nd70ndAveragendndndndnd72Average
Learning difficulties/educational support/special school+++++nd++++++++
Behavioural anomaliesAutistic featuresndASDASDHyperactivity, temper tantrums
  • ASD, autism spectrum disorder (formally tested); na, not applicable; nd, no data or not determined; NGS, next generation sequencing; Sanger, targeted sequencing.